STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

doi:10.1038/s41588-024-01717-7

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Article

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

Nature genetics - 1 May 2024

Grasberger Helmut, Dumitrescu Alexandra M, Liao Xiao-Hui, Swanson Elliott G, Weiss Roy E, Srichomkwun Panudda, Pappa Theodora, Chen Junfeng, Yoshimura Takashi, Hoffmann Phillip, França Monica Malheiros, Tagett Rebecca, Onigata Kazumichi, Costagliola Sabine, Ranchalis Jane, Vollger Mitchell R, Stergachis Andrew B, Chong Jessica X, Bamshad Michael J, Smits Guillaume, Vassart Gilbert, Refetoff Samuel

Abstract excerpt

Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited RTSH has been linked to a locus on chromosome 15q, but its genetic basis has remained elusive. Here we show that non-coding mutations in a (TTTG)4 short tandem repeat (STR) underlie dominantly inherited RTSH in all 82 affected...

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PMID: 38714869
DOI: 10.1038/s41588-024-01717-7
PMCID: PMC11472772

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